Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation. The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients. An online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation, phenotype description, and radiographic records. Additionally, ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses. We identified a novel mutation in WNT10A (c.99_105dup) and eight previously reported mutations in WNT10A (c.433 G > A; c.682 T > A; c.318 C > G; c.511.C > T; c.321 C > A), EDAR (c.581 C > T), and LRP6 (c.1003 C > T, c.2747 G > T). Collectively, 20 different causative genes were implicated among those 393 cases with oligodontia. For each causative gene, the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated. Genotype-phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations, mandibular first premolar agenesis is least associated with PAX9 mutations. Mandibular incisors and maxillary lateral incisor agenesis are most closely linked to EDA mutations.
Humans ; Phenotype ; Wnt Proteins

PURPOSE: Herein, we report characteristics of ¹⁸F–fluorodeoxyglucose (FDG) uptake in abdominal aortic aneurysms (AAAs) during a long-term follow-up. In addition, we investigated the association between FDG uptake and the physician decision to perform an intervention.METHODS: We performed a retrospective review of 42 patients with AAAs who underwent FDG positron emission tomography (PET)/computed tomography (CT). The size of the AAA was measured in serial CT or PET/CT images. The long-term growth rate of AAAs was calculated by linear regression of the size change. Maximal SUV of the AAA (SUV(AAA)) and mean SUV of the blood pool (SUV(Blood)) were measured in PET/CT fusion images. To assess the FDG uptake of AAAs, the target-to-background ratio (TBR) was defined as the ratio of SUV(AAA) to SUV(Blood). We compared FDG uptake of AAAs with the long-term growth rate of AAAs and clinical data.RESULTS: TBR was not significantly different between patients with and without significant growth (1.55 ± 0.20 vs. 1.57 ± 0.14; P = 0.5599).However, in patients with significant growth, TBR exhibited a significant positive correlation with the growth rate (r² = 0.2601, P = 0.0306). TBR also exhibited a significant difference between patients with and without intervention (P = 0.0228).CONCLUSION: FDG uptake of AAA is associated with long-term growth of AAAs in a specified group that exhibits growth. FDG PET/CT may only be effective in predicting the long-term growth of AAAs in specific subgroups of patients. It is also suggested that FDG PET is potentially related to the clinical conditions of AAA patients who need surgical or interventional treatment.
Aortic Aneurysm, Abdominal ; Follow-Up Studies ; Humans ; Linear Models ; Positron-Emission Tomography ; Positron-Emission Tomography and Computed Tomography ; Retrospective Studies

PURPOSE: ⁶⁸Ga-labeled 1,4,7,10-tetraazacyclododecane-N,N′,N″,N‴-tetraacetic acid-D-Phe1-Tyr3-octreotide (⁶⁸Ga-DOTATOC) is taken up by activated macrophages, which accumulate in active inflammatory lesions. The purpose of this study was to investigate the feasibility of ⁶⁸Ga-DOTATOC PET/CT for assessment of vulnerable plaque, by evaluating correlation between aortic uptake of ⁶⁸Ga-DOTATOC and cardiovascular risk factors.METHODS: Fifty patients with neuroendocrine tumors who underwent ⁶⁸Ga-DOTATOC PET/CT were retrospectively enrolled. The uptakes in the thoracic aorta were measured by two methods: multi-sample region-of-interest (ROI) method and single volume-of-interest (VOI) method. TBRmax-avg, TBRmean-avg, TBRmax-VOI, and TBRmean-VOI were defined by maximum and mean target-to-background ratio (TBR) from the multi-sample ROI method and the single VOI method, respectively.RESULTS: Framinghamrisk score (FRS) exhibited significant correlations with TBRmax-avg and TBRmean-avg, aswell as TBRmax-VOI (r = 0.3389–0.4593, P < 0.05 for all). TBRmax-avg and TBRmax-VOI were significantly higher in high FRS group than in low FRS group (1.48 ± 0.21 vs. 1.70 ± 0.17, P < 0.001 for TBRmax-avg and 1.90 ± 0.33 vs. 2.25 ± 0.36, P = 0.002 for TBRmax-VOI). TBR exhibited high correlations between the two measuring methods (r = 0.9684, P < 0.001 for TBRmean-avg and TBRmean-VOI and r = 0.8681, P < 0.001 for TBRmax-avg and TBRmax-VOI).CONCLUSIONS: ⁶⁸Ga-DOTATOC uptake in the thoracic aorta exhibited a significant correlation with cardiovascular risk factors, which suggests the feasibility of ⁶⁸Ga-DOTATOC PET for vulnerable plaque imaging, with a simple measurement of the single VOI method that is comparable to the multi-sample ROI-based approach.
Aorta, Thoracic ; Atherosclerosis ; Humans ; Macrophages ; Methods ; Neuroendocrine Tumors ; Positron-Emission Tomography and Computed Tomography ; Retrospective Studies ; Risk Factors

PURPOSE: Although ¹⁸F-fluorodeoxyglucose (FDG) positron emission tomography (PET) is a standard imaging modality for response evaluation in FDG-avid lymphoma, there is a controversy using FDG PET in indolent lymphoma. The purpose of this study was to investigate the effectiveness of quantitative indexes on FDG PET in response evaluation of the indolent lymphoma.METHODS: Fifty-seven indolent lymphoma patients who completed chemotherapy were retrospectively enrolled. FDG PET/computed tomography (CT) scans were performed at baseline, interim, and end of treatment (EOT). Response was determined by Lugano classification, and progression-free survival (PFS) by follow-up data. Maximumstandardized uptake value (SUV(max)), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were measured in the single hottest lesion (target A) or five hottest lesions (target B). Their efficacies regarding response evaluation and PFS prediction were evaluated.RESULTS: On EOT PET, SUV(max), and MTVof both targets were well associated with visual analysis. Changes between initial and EOT PET were not significantly different between CR and non-CR groups. On interim PET, SUV(max), and %ΔSUV(max) in both targets were significantly different between CR and non-CR groups. For prediction of PFS, most tested indexes were significant on EOT and interim PET, with SUVmax being the most significant prognostic factor.CONCLUSION: Quantitative indexes of FDG PET are well associated with Lugano classification in indolent lymphoma. SUV(max) measured in the single hottest lesion can be effective in response evaluation and prognosis prediction on interim and EOT PET.
Classification ; Disease-Free Survival ; Drug Therapy ; Follow-Up Studies ; Glycolysis ; Humans ; Lymphoma ; Positron-Emission Tomography ; Prognosis ; Retrospective Studies ; Tumor Burden

BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery. For the maternal participants, iodine status is evaluated by urinary iodine concentration (UIC) and dietary records in the third trimester and at 3 to 4 weeks and 12 to 15 months postpartum. For the child participants, cord blood sampling and UIC measurements are performed at birth. At 3 to 4 weeks of age, UIC and breastmilk iodine concentrations are measured. At 12 to 15 months of age, growth and development are assessed and measurements of UIC, a thyroid function test, and ultrasonography are performed. RESULTS: A total of 198 pregnant women in their third trimester were recruited. Their mean age was 35.1±3.5 years, and 78 (39.4%) of them were pregnant with twins. Thirty-three (16.7%) of them had a previous history of thyroid disease. CONCLUSION: Korea is an iodine-replete area. In particular, lactating women in Korea are commonly exposed to excess iodine due to the traditional practice of consuming brown seaweed soup postpartum. The study of the IBM cohort is expected to contribute to developing guidelines for optimal iodine nutrition in pregnant or lactating women.
Breast* ; Child ; Cohort Studies* ; Cordocentesis ; Diet Records ; Female ; Growth and Development* ; Humans ; Infant ; Iodine* ; Korea ; Lactation* ; Milk, Human* ; Parturition ; Postpartum Period ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Prospective Studies* ; Seaweed ; Seoul ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland* ; Twins ; Ultrasonography

PURPOSE: ⁶⁸Ga-labeled 1,4,7,10-tetraazacyclododecane-N,N′,N″,N‴-tetraacetic acid-D-Phe1-Tyr3-octreotide (⁶⁸Ga-DOTATOC) is taken up by activated macrophages, which accumulate in active inflammatory lesions. The purpose of this study was to investigate the feasibility of ⁶⁸Ga-DOTATOC PET/CT for assessment of vulnerable plaque, by evaluating correlation between aortic uptake of ⁶⁸Ga-DOTATOC and cardiovascular risk factors. METHODS: Fifty patients with neuroendocrine tumors who underwent ⁶⁸Ga-DOTATOC PET/CT were retrospectively enrolled. The uptakes in the thoracic aorta were measured by two methods: multi-sample region-of-interest (ROI) method and single volume-of-interest (VOI) method. TBRmax-avg, TBRmean-avg, TBRmax-VOI, and TBRmean-VOI were defined by maximum and mean target-to-background ratio (TBR) from the multi-sample ROI method and the single VOI method, respectively. RESULTS: Framinghamrisk score (FRS) exhibited significant correlations with TBRmax-avg and TBRmean-avg, aswell as TBRmax-VOI (r = 0.3389–0.4593, P < 0.05 for all). TBRmax-avg and TBRmax-VOI were significantly higher in high FRS group than in low FRS group (1.48 ± 0.21 vs. 1.70 ± 0.17, P < 0.001 for TBRmax-avg and 1.90 ± 0.33 vs. 2.25 ± 0.36, P = 0.002 for TBRmax-VOI). TBR exhibited high correlations between the two measuring methods (r = 0.9684, P < 0.001 for TBRmean-avg and TBRmean-VOI and r = 0.8681, P < 0.001 for TBRmax-avg and TBRmax-VOI). CONCLUSIONS ⁶⁸Ga-DOTATOC uptake in the thoracic aorta exhibited a significant correlation with cardiovascular risk factors, which suggests the feasibility of ⁶⁸Ga-DOTATOC PET for vulnerable plaque imaging, with a simple measurement of the single VOI method that is comparable to the multi-sample ROI-based approach.

PURPOSE: Herein, we report characteristics of ¹⁸F–fluorodeoxyglucose (FDG) uptake in abdominal aortic aneurysms (AAAs) during a long-term follow-up. In addition, we investigated the association between FDG uptake and the physician decision to perform an intervention. METHODS: We performed a retrospective review of 42 patients with AAAs who underwent FDG positron emission tomography (PET)/computed tomography (CT). The size of the AAA was measured in serial CT or PET/CT images. The long-term growth rate of AAAs was calculated by linear regression of the size change. Maximal SUV of the AAA (SUV(AAA)) and mean SUV of the blood pool (SUV(Blood)) were measured in PET/CT fusion images. To assess the FDG uptake of AAAs, the target-to-background ratio (TBR) was defined as the ratio of SUV(AAA) to SUV(Blood). We compared FDG uptake of AAAs with the long-term growth rate of AAAs and clinical data. RESULTS: TBR was not significantly different between patients with and without significant growth (1.55 ± 0.20 vs. 1.57 ± 0.14; P = 0.5599).However, in patients with significant growth, TBR exhibited a significant positive correlation with the growth rate (r² = 0.2601, P = 0.0306). TBR also exhibited a significant difference between patients with and without intervention (P = 0.0228). CONCLUSION FDG uptake of AAA is associated with long-term growth of AAAs in a specified group that exhibits growth. FDG PET/CT may only be effective in predicting the long-term growth of AAAs in specific subgroups of patients. It is also suggested that FDG PET is potentially related to the clinical conditions of AAA patients who need surgical or interventional treatment.

PURPOSE: Although ¹⁸F-fluorodeoxyglucose (FDG) positron emission tomography (PET) is a standard imaging modality for response evaluation in FDG-avid lymphoma, there is a controversy using FDG PET in indolent lymphoma. The purpose of this study was to investigate the effectiveness of quantitative indexes on FDG PET in response evaluation of the indolent lymphoma. METHODS: Fifty-seven indolent lymphoma patients who completed chemotherapy were retrospectively enrolled. FDG PET/computed tomography (CT) scans were performed at baseline, interim, and end of treatment (EOT). Response was determined by Lugano classification, and progression-free survival (PFS) by follow-up data. Maximumstandardized uptake value (SUV(max)), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were measured in the single hottest lesion (target A) or five hottest lesions (target B). Their efficacies regarding response evaluation and PFS prediction were evaluated. RESULTS: On EOT PET, SUV(max), and MTVof both targets were well associated with visual analysis. Changes between initial and EOT PET were not significantly different between CR and non-CR groups. On interim PET, SUV(max), and %ΔSUV(max) in both targets were significantly different between CR and non-CR groups. For prediction of PFS, most tested indexes were significant on EOT and interim PET, with SUVmax being the most significant prognostic factor. CONCLUSION Quantitative indexes of FDG PET are well associated with Lugano classification in indolent lymphoma. SUV(max) measured in the single hottest lesion can be effective in response evaluation and prognosis prediction on interim and EOT PET.

PURPOSE: Various methods of sentinel lymph node (SLN) biopsy in thyroid cancer have been introduced. Tc-99m phytate as a radiotracer has been successfully utilized for SLN biopsy in breast, cervix, and endometrial cancer. We assessed the feasibility of SLN dissection using Tc-99m phytate in papillary thyroid carcinoma (PTC). METHODS: Seventeen patients with PTC were prospectively enrolled. Ultrasound-guided peritumoral injection of 55.5 MBq Tc-99m phytate in 0.25-mL normal saline was performed. Preoperative single-photon emission-computed tomography (SPECT) and intraoperative gamma-probe were used for SLN detection during operation. RESULTS: Identification rate of SLNs was 70.6% (12 of 17) with SPECT, and 88.2% (15 of 17) with gamma-probe. Combined SPECT and gamma-probe had identification rates of 88.2% (15 of 17). Identification rates of SLNs in central LN compartments were 82.4% (14 of 17) and 41.2% (7 of 17) in lateral LN compartments. Overall sensitivity, specificity, positive predictive value, and negative predictive value of the results of SLN biopsy were 91.6%, 100%, 88.4%, and 100%, respectively. Eight patients (47.1%) had metastasis in SLNs; all patients had SLN metastasis in the central compartment and 2 patients had SLN metastasis in both the central and lateral compartments. CONCLUSION: Combined SPECT and gamma-probe could detect SLNs with an 88.2% identification rate in PTC. SLN biopsy using Tc-99m phytate is technically feasible. Further investigation is warranted for clinical application of Tc-99m phytate in PTC.
Biopsy ; Breast ; Cervix Uteri ; Endometrial Neoplasms ; Female ; Humans ; Lymph Node Excision* ; Lymph Nodes* ; Neoplasm Metastasis ; Phytic Acid* ; Prospective Studies ; Sensitivity and Specificity ; Sentinel Lymph Node Biopsy ; Thyroid Gland* ; Thyroid Neoplasms* ; Tomography, Emission-Computed, Single-Photon